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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Karvonen V, Harjama L, Heliö K, Kettunen K, Elomaa O, Koskenvuo JW, Kere J, Weckström S, Holmström M, Saarela J, Ranki A, Heliö T, Hannula-Jouppi K. Karvonen V, et al. Among authors: koskenvuo jw. J Eur Acad Dermatol Venereol. 2022 Aug;36(8):1349-1358. doi: 10.1111/jdv.18164. Epub 2022 May 6. J Eur Acad Dermatol Venereol. 2022. PMID: 35445468 Free PMC article.
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenperä P, Koillinen H, Kaartinen M, Nieminen MS, Myllykangas S, Alastalo TP, Koskenvuo JW, Heliö T. Akinrinade O, et al. Among authors: koskenvuo jw. Eur Heart J. 2015 Sep 7;36(34):2327-37. doi: 10.1093/eurheartj/ehv253. Epub 2015 Jun 17. Eur Heart J. 2015. PMID: 26084686 Free PMC article.
Clinical disease presentation and ECG characteristics of LMNA mutation carriers.
Ollila L, Nikus K, Holmström M, Jalanko M, Jurkko R, Kaartinen M, Koskenvuo J, Kuusisto J, Kärkkäinen S, Palojoki E, Reissell E, Piirilä P, Heliö T. Ollila L, et al. Open Heart. 2017 Jan 9;4(1):e000474. doi: 10.1136/openhrt-2016-000474. eCollection 2017. Open Heart. 2017. PMID: 28123761 Free PMC article.
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM, Leivo K, Seppälä EH, Aalto-Setälä K, Pitkänen O, Suursalmi P, Annala AP, Anttila I, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW. Vanninen SUM, et al. Among authors: koskenvuo jw. PLoS One. 2018 Sep 20;13(9):e0203422. doi: 10.1371/journal.pone.0203422. eCollection 2018. PLoS One. 2018. PMID: 30235249 Free PMC article. Clinical Trial.
ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients.
Heliö T, Elliott P, Koskenvuo JW, Gimeno JR, Tavazzi L, Tendera M, Kaski JP, Mansencal N, Bilińska Z, Carr-White G, Damy T, Frustaci A, Kindermann I, Ripoll-Vera T, Čelutkienė J, Axelsson A, Lorenzini M, Saad A, Maggioni AP, Laroche C, Caforio ALP, Charron P; EORP Cardiomyopathy Registry Investigators Group. Heliö T, et al. Among authors: koskenvuo jw. ESC Heart Fail. 2020 Oct;7(5):3013-3021. doi: 10.1002/ehf2.12925. Epub 2020 Aug 7. ESC Heart Fail. 2020. PMID: 32767651 Free PMC article.
Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Akinrinade O, Heliö T, Lekanne Deprez RH, Jongbloed JDH, Boven LG, van den Berg MP, Pinto YM, Alastalo TP, Myllykangas S, van Spaendonck-Zwarts K, van Tintelen JP, van der Zwaag PA, Koskenvuo J. Akinrinade O, et al. Sci Rep. 2020 Oct 9;10(1):17264. doi: 10.1038/s41598-020-73763-0. Sci Rep. 2020. PMID: 33037269 Free PMC article.
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